Results 121 to 130 of about 14,130 (212)

Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Frontiers in Genetics, 2021
Elizabeth G. Woo, Nahid Tayebi, Ellen Sidransky   +2 more
doaj   +1 more source

Estudo da doença de Gaucher em Santa Catarina Study of Gaucher disease in Santa Catarina

Revista Brasileira de Hematologia e Hemoterapia, 2008
A doença de Gaucher (DG) foi a primeira doença de armazenamento lisossomal descrita e a mais encontrada. Caracteriza-se pela deficiência hereditária da atividade da enzima lisossomal glucocerebrosidase, que bloqueia o metabolismo do glicocerebrosídeo.
Jovino S. Ferreira, Vera Lúcia P. C. Ferreira, David C. Ferreira   +2 more
doaj   +1 more source

Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies [PDF]

, 2018
Mutations in the GBA gene, encoding the lysosomal hydrolase glucocerebrosidase (GCase), are the most common known genetic risk factor for Parkinson’s disease (PD) and dementia with Lewy bodies (DLB).
Beccari, T. (Tommaso), Bonifati, V. (Vincenzo), Breedveld, G.J. (Guido), Calabresi, P. (Paolo), Chiasserini, D. (Davide), Duran-Pacheco, G. (Gonzalo), Eusebi, P. (Paolo), Ingrassia, A. (Angela), Kremer, T. (Thomas), Moors, T.E. (Tim E.), Paciotti, S. (Silvia), Parnetti, L., Quadri, M. (Marialuisa), Tasegian, A. (Anna), van de Berg, W.D.J. (Wilma D. J.)   +14 more
core   +2 more sources

Diet, β-glucocerebrosidase deficiency, and Parkinson's disease. [PDF]

J Lipid Res
Shayman JA.
europepmc   +3 more sources

Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson’s Disease: A Possible Factor Influencing Clinical Phenotype?

Biomolecules
Neurosteroids are pleiotropic molecules involved in various neurodegenerative diseases with neuroinflammation. We assessed neurosteroids’ serum levels in a cohort of Parkinson’s Disease (PD) patients with heterozygous glucocerebrosidase (GBA) mutations ...
Francesco Cavallieri, Chiara Lucchi, Sara Grisanti, Edoardo Monfrini, Valentina Fioravanti, Giulia Toschi, Giulia Di Rauso, Jessica Rossi, Alessio Di Fonzo, Giuseppe Biagini, Franco Valzania   +10 more
doaj   +1 more source

Lewy Body Dementia Association\u27s Research Centers of Excellence Program: Inaugural Meeting Proceedings. [PDF]

, 2019
The first Lewy Body Dementia Association (LBDA) Research Centers of Excellence (RCOE) Investigator\u27s meeting was held on December 14, 2017, in New Orleans.
Amodeo, Katherine, Armstrong, Melissa, Barrett, Matt, Boeve, Brad, Christie, Tina, Domoto-Reilly, Kimiko, Duda, John, Galasko, Douglas, Galvin, James E., Goldman, Jennifer, Gomperts, Stephen, Graff-Radford, Neill, Graham, Todd, Holden, Samantha, Honig, Lawrence, Huddleston, Daniel, Irwin, David, Kaufer, Daniel, Koehler, Mike, Leverenz, James, Lippa, Carol, Litvan, Irene, Lunde, Angela, Manning, Carol, Marder, Karen, McKeith, Ian G., Moussa, Charbel, Onyike, Chiadi, Pagan, Fernando, Pantelyat, Alexander, Paulson, Henry, Pelak, Victoria, Peterson, Bethany, Poston, Kathleen, Quinn, Joseph, Richard, Irene, Richards, Ian, Rosenthal, Liana S., Sabbagh, Marwan, Scharre, Douglas, Sha, Sharon, Shill, Holly, Siderowf, Andrew, Taylor, Angela, Torres-Yaghi, Yasar   +44 more
core   +3 more sources

Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease [PDF]

, 2018
K
Batta, Gyula, Bozó, Tamás, Kellermayer, Miklós, Kovács, Tamás, Mészár, Zoltán Mihály, Nagy, Péter, Soltész, Lilla, Szöllősi, János   +7 more
core   +2 more sources

Valuing Intellectual Property Rights in an Imperfectly Competitive Market: A Biopharming Application [PDF]

Small research firms developing biotechnology applications often focus on establishing intellectual property rights (IPRs), which can then be sold to more established firms with existing market channels.
Kostandini, Genti, Mills, Bradford F.
core   +1 more source

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction

Molecules
Gaucher disease (GD) is a rare genetic metabolic disorder characterized by a dysfunction of the lysosomal glycoside hydrolase glucocerebrosidase (GCase) due to mutations in the gene GBA1, leading to the cellular accumulation of glucosylceramide (GlcCer).
Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai   +10 more
doaj   +1 more source

Glucocerebrosidase (GBA; GCase) [PDF]

Science-Business eXchange, 2011
openaire   +2 more sources